Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

由 Beri, Silvana, Bonaglia, Maria Clara, Giorda, Roberto
出版 2013

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

由 Gimelli, Stefania, Beri, Silvana, Drabkin, Harry A, Gambini, Claudio, Gregorio, Andrea, Fiorio, Patrizia, Zuffardi, Orsetta, Gemmill, Robert M, Giorda, Roberto, Gimelli, Giorgio
出版 2009

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood

由 Novara, Francesca, Beri, Silvana, Bernardo, Maria Ester, Bellazzi, Riccardo, Malovini, Alberto, Ciccone, Roberto, Cometa, Angela Maria, Locatelli, Franco, Giorda, Roberto, Zuffardi, Orsetta
出版 2009

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

由 Griseri, Paola, Vos, Yvonne, Giorda, Roberto, Gimelli, Stefania, Beri, Silvana, Santamaria, Giuseppe, Mognato, Guendalina, Hofstra, Robert M W, Gimelli, Giorgio, Ceccherini, Isabella
出版 2009

Pain-related stress during the Neonatal Intensive Care Unit stay and SLC6A4 methylation in very preterm infants

由 Provenzi, Livio, Fumagalli, Monica, Sirgiovanni, Ida, Giorda, Roberto, Pozzoli, Uberto, Morandi, Francesco, Beri, Silvana, Menozzi, Giorgia, Mosca, Fabio, Borgatti, Renato, Montirosso, Rosario
發表在 Front Behav Neurosci (2015)

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

由 Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, Bigoni, Stefania, Sensi, Alberto, Baroncini, Anna, Capucci, Antonella, De Agostini, Cristina, Gwilliam, Rhian, Deloukas, Panos, Dunham, Ian, Zuffardi, Orsetta
出版 2008

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

由 Kurtas, Nehir, Arrigoni, Filippo, Errichiello, Edoardo, Zucca, Claudio, Maghini, Cristina, D’Angelo, Maria Grazia, Beri, Silvana, Giorda, Roberto, Bertuzzo, Sara, Delledonne, Massimo, Xumerle, Luciano, Rossato, Marzia, Zuffardi, Orsetta, Bonaglia, Maria Clara
發表在 J Med Genet (2018)

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

由 Bonaglia, Maria C, Marelli, Susan, Novara, Francesca, Commodaro, Simona, Borgatti, Renato, Minardo, Grazia, Memo, Luigi, Mangold, Elisabeth, Beri, Silvana, Zucca, Claudio, Brambilla, Daniele, Molteni, Massimo, Giorda, Roberto, Weber, Ruthild G, Zuffardi, Orsetta
出版 2010

Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract

由 Gimelli, Stefania, Caridi, Gianluca, Beri, Silvana, McCracken, Kyle, Bocciardi, Renata, Zordan, Paola, Dagnino, Monica, Fiorio, Patrizia, Murer, Luisa, Benetti, Elisa, Zuffardi, Orsetta, Giorda, Roberto, Wells, James M, Gimelli, Giorgio, Ghiggeri, Gian Marco
出版 2010

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

由 Rossi, Elena, Giorda, Roberto, Bonaglia, Maria Clara, Candia, Stefania Di, Grechi, Elena, Franzese, Adriana, Soli, Fiorenza, Rivieri, Francesca, Patricelli, Maria Grazia, Saccilotto, Donatella, Bonfante, Aldo, Giglio, Sabrina, Beri, Silvana, Rocchi, Mariano, Zuffardi, Orsetta
出版 2012

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

由 Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
發表在 Eur J Hum Genet (2015)

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

由 Giorda, Roberto, Bonaglia, M. Clara, Beri, Silvana, Fichera, Marco, Novara, Francesca, Magini, Pamela, Urquhart, Jill, Sharkey, Freddie H., Zucca, Claudio, Grasso, Rita, Marelli, Susan, Castiglia, Lucia, Di Benedetto, Daniela, Musumeci, Sebastiano A., Vitello, Girolamo A., Failla, Pinella, Reitano, Santina, Avola, Emanuela, Bisulli, Francesca, Tinuper, Paolo, Mastrangelo, Massimo, Fiocchi, Isabella, Spaccini, Luigina, Torniero, Claudia, Fontana, Elena, Lynch, Sally Ann, Clayton-Smith, Jill, Black, Graeme, Jonveaux, Philippe, Leheup, Bruno, Seri, Marco, Romano, Corrado, Bernardina, Bernardo dalla, Zuffardi, Orsetta
出版 2009

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

由 Giorda, Roberto, Bonaglia, M. Clara, Beri, Silvana, Fichera, Marco, Novara, Francesca, Magini, Pamela, Urquhart, Jill, Sharkey, Freddie H., Zucca, Claudio, Grasso, Rita, Marelli, Susan, Castiglia, Lucia, Di Benedetto, Daniela, Musumeci, Sebastiano A., Vitello, Girolamo A., Failla, Pinella, Reitano, Santina, Avola, Emanuela, Bisulli, Francesca, Tinuper, Paolo, Mastrangelo, Massimo, Fiocchi, Isabella, Spaccini, Luigina, Torniero, Claudia, Fontana, Elena, Lynch, Sally Ann, Clayton-Smith, Jill, Black, Graeme, Jonveaux, Philippe, Leheup, Bruno, Seri, Marco, Romano, Corrado, dalla Bernardina, Bernardo, Zuffardi, Orsetta
出版 2009

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

由 Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
出版 2011